Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample ETV3L 440695 broad.mit.edu 37 1 157062700 157062700 + Missense_Mutation SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr1:157062700C>T ENST00000454449.2 - 5 1111 c.827G>A c.(826-828)aGc>aAc p.S276N NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 276 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) CCCTGGGAGGCTCCTAGGTCC 0.642 12 21 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201822199 201822199 + Missense_Mutation SNP A A G TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr1:201822199A>G ENST00000361565.4 + 6 733 c.664A>G c.(664-666)Atc>Gtc p.I222V IPO9_ENST00000464348.1_3'UTR NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 222 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 TGCCCATATGATCTGTAACAT 0.438 5 182 --- --- --- --- LRRTM1 347730 broad.mit.edu 37 2 80529581 80529581 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr2:80529581G>A ENST00000295057.3 - 2 2020 c.1364C>T c.(1363-1365)gCc>gTc p.A455V CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 455 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 CCTGAGGCTGGCTGGGAAACA 0.572 HNSCC(69;0.2) 19 27 --- --- --- --- VWA3B 200403 broad.mit.edu 37 2 98844716 98844716 + Missense_Mutation SNP C C A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr2:98844716C>A ENST00000477737.1 + 15 2275 c.2071C>A c.(2071-2073)Ctg>Atg p.L691M NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 691 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCACAGTGATCTGGAGAAGAT 0.433 19 44 --- --- --- --- FN1 2335 broad.mit.edu 37 2 216269132 216269132 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr2:216269132G>A ENST00000354785.4 - 20 3602 c.3233C>T c.(3232-3234)gCc>gTc p.A1078V FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V|FN1_ENST00000359671.1_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V P02751 FINC_HUMAN fibronectin 1 1078 Fibronectin type-III 5. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACTCCAGTGGCTTTGGGGCT 0.433 6 87 --- --- --- --- EVC2 132884 broad.mit.edu 37 4 5564760 5564760 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr4:5564760G>A ENST00000310917.2 - 22 4233 c.3502C>T c.(3502-3504)Ccc>Tcc p.P1168S EVC2_ENST00000344408.5_Missense_Mutation_p.P1248S|EVC2_ENST00000344938.1_Intron NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1248 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TCGCCAATGGGCTCCAGTGAC 0.443 9 146 --- --- --- --- CXCL1 2919 broad.mit.edu 37 4 74735480 74735480 + Silent SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr4:74735480C>T ENST00000395761.3 + 2 262 c.195C>T c.(193-195)ccC>ccT p.P65P CXCL1_ENST00000509101.1_3'UTR NM_001511.3 NP_001502.1 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 65 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TGAAGTCCCCCGGACCCCACT 0.652 37 68 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16328576 16328576 + Translation_Start_Site SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr6:16328576C>T ENST00000244769.4 - 0 902 ATXN1_ENST00000436367.1_De_novo_Start_OutOfFrame NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GACTGTTTCACTGTCTGGATG 0.527 3 8 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5353440 5353440 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr7:5353440G>A ENST00000399537.4 - 27 7430 c.7082C>T c.(7081-7083)cCc>cTc p.P2361L TNRC18_ENST00000430969.1_Missense_Mutation_p.P2361L O15417 TNC18_HUMAN trinucleotide repeat containing 18 2361 Pro-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CAGGGCTAAGGGGGTACTGGG 0.662 10 18 --- --- --- --- INTS9 55756 broad.mit.edu 37 8 28692856 28692856 + Silent SNP C C A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr8:28692856C>A ENST00000416984.2 - 5 737 c.378G>T c.(376-378)gtG>gtT p.V126V INTS9_ENST00000521022.1_Silent_p.V147V|INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 147 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GAGCCTTTGGCACTCTTTCAA 0.443 3 37 --- --- --- --- MTDH 92140 broad.mit.edu 37 8 98712028 98712028 + Missense_Mutation SNP G G T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr8:98712028G>T ENST00000336273.3 + 7 1423 c.1095G>T c.(1093-1095)caG>caT p.Q365H MTDH_ENST00000519934.1_Intron NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 365 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) CTGATTATCAGTGGGATGTTA 0.328 31 56 --- --- --- --- HHEX 3087 broad.mit.edu 37 10 94454307 94454307 + Missense_Mutation SNP A A C TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:94454307A>C ENST00000282728.5 + 4 2394 c.595A>C c.(595-597)Aac>Cac p.N199H HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 199 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 TATTCAGGAGAACCCTCAAAG 0.368 11 13 --- --- --- --- HHEX 3087 broad.mit.edu 37 10 94454330 94454330 + Missense_Mutation SNP A A C TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:94454330A>C ENST00000282728.5 + 4 2417 c.618A>C c.(616-618)gaA>gaC p.E206D HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 206 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 ATAAAAAAGAAGAACTGGAAA 0.393 12 20 --- --- --- --- HHEX 3087 broad.mit.edu 37 10 94454417 94454417 + Missense_Mutation SNP A A C TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:94454417A>C ENST00000282728.5 + 4 2504 c.705A>C c.(703-705)caA>caC p.Q235H HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 235 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 ATAGCTCTCAATGTTCGCCCT 0.438 17 27 --- --- --- --- OR51M1 390059 broad.mit.edu 37 11 5410912 5410912 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr11:5410912G>A ENST00000328611.3 + 1 306 c.284G>A c.(283-285)gGg>gAg p.G95E HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 95 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCACTATGGGGATCTTCTGG 0.507 35 81 --- --- --- --- NOS1 4842 broad.mit.edu 37 12 117657907 117657907 + Silent SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr12:117657907G>A ENST00000317775.6 - 27 4828 c.4143C>T c.(4141-4143)gaC>gaT p.D1381D NOS1_ENST00000338101.4_Silent_p.D1415D|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1381 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.D1381D(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATACGCCGGCGTCCTCTGCCG 0.577 29 72 --- --- --- --- DIO3 1735 broad.mit.edu 37 14 102027947 102027947 + Silent SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr14:102027947C>T ENST00000359323.3 + 1 260 c.36C>T c.(34-36)ctC>ctT p.L12L DIO3_ENST00000510508.4_Silent_p.L38L NM_001362.3 NP_001353.4 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 12 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CCTTGAGGCTCTGCGCCCAGA 0.657 10 25 --- --- --- --- NEK8 284086 broad.mit.edu 37 17 27062354 27062354 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr17:27062354G>A ENST00000268766.6 + 4 617 c.583G>A c.(583-585)Gag>Aag p.E195K NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 195 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) TGTCCTCTACGAGCTGGCCAG 0.602 7 16 --- --- --- --- PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41107892 41107892 + Missense_Mutation SNP T T C TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr17:41107892T>C ENST00000421990.2 - 12 1628 c.1283A>G c.(1282-1284)cAt>cGt p.H428R AARSD1_ENST00000427569.2_Missense_Mutation_p.H254R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R NM_001136042.2 NP_001129514.2 TTCAGTTCCATGACTTCTCTC 0.438 5 155 --- --- --- --- PEG3 5178 broad.mit.edu 37 19 57326531 57326531 + Silent SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr19:57326531G>A ENST00000326441.9 - 10 3642 c.3279C>T c.(3277-3279)gaC>gaT p.D1093D PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.D967D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.D1093D|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1093 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTCTTCCATGTCTGAGCCTT 0.522 41 60 --- --- --- --- PDCD11 22984 broad.mit.edu 37 10 105201643 105201643 + Frame_Shift_Del DEL A A - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:105201643delA ENST00000369797.3 + 31 4712 c.4618delA c.(4618-4620)aatfs p.N1540fs NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1540 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTTCGCTTGGAATGTGGGACT 0.577 10 25 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50036730 50036730 + Frame_Shift_Del DEL C C - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr12:50036730delC ENST00000261897.1 + 21 2585 c.2034delC c.(2032-2034)ctcfs p.L678fs FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.L691fs Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 691 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GCCAGCACCTCCACACCAAAG 0.542 2 4 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18389469 18389477 + In_Frame_Del DEL TCACAGAGC TCACAGAGC - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr22:18389469_18389477delTCACAGAGC ENST00000441493.2 - 2 454_462 c.102_110delGCTCTGTGA c.(100-111)gagctctgtgac>gac p.ELC34del MICAL3_ENST00000585038.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000207726.7_In_Frame_Del_p.ELC34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELC34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELC34del NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 34 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TTCCAGGTGGTCACAGAGCTCCTGGAAAG 0.526 13 148 --- --- --- ---